Disease mutations in the N-terminal extension and α 2'-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA
Qin Jian, Patrick Lambert-Lanteigne, Alexandre Garus, Chantal Autexier
The paper shows that disease mutations in dyskerin's N-terminal extension and α2-helix do not prevent dimerization but impair hTR binding, contributing to X-DC pathogenesis.
RNA · Jul 31, 2026Peer-reviewedCell Biology